Varaico: Literature-Extracted Genetic Variants

Gene:CBL
Variant:p.K382I
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CBL

NM_005188.4:p.K382I

Associated Papers

Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data.

Wright CF et al.

Nature Communications, 2019

31278258 (PubMed )
Supplement: 41467_2019_11059_MOESM3_ESM.xlsx › Supplementary_Data1
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."